FAMILIAL GLUCOCORTICOID DEFICIENCY

Familial Glucocorticoid Deficiency (FGD) is an adrenocortical failure represented by low levels of plasma cortisol. This is an inherited disorder. Typically there are three types of this disorder, the FGD type 1 and type 2 accounting for 45% of the cases. The type 1 FGD is caused by mutations in the ACTH receptor whereas the type 2 FGD is caused by mutations in the MC2R accessory protein. The type 3 FGD is caused due to mutations in the steroidogenic acute regulatory protein (StAR). The new-borns can show signs of extreme irritability, jitteriness with respiratory distress or even seizures.

HOW IS FAMILIAL GLUCOCORTICOID DEFICIENCY TREATED?

Treatment is performed with replacement therapy using hydrocortisone. An oral dosage of 10 to 12 mg in case of children and 20 to 30 mg in case of adults is recommended. The dosage is suggested to be increased in times of illness.